Mutations Associated With Cancer Found In Endometriosis

Mutations Associated With Cancer Found In Endometriosis

New Study Suggests Endometriosis Tissue Contains Cancer-Driver Mutations

A new study out in the New England Journal of Medicine is linking endometriosis with cancer. Findings from the study have identified cancer-related mutations in tissue taken from patients with deep infiltrating endometriosis (DIE), a non-cancerous tissue.

Mutations Associated With Cancer Found In Endometriosis
Original Article which Dr.Seckin participate

The joint study between The Johns Hopkins University, Maryland and the University of British Columbia, analyzed DIE lesions from a combined 27 patients from both New York City and Japan. Researchers sequenced the exome of healthy tissue and endometriosis tissue and found in 19 out of 24 samples one or more mutations in the endometriosis tissue that were not present in the corresponding normal tissue of the same patients. Researchers concluded that DIE lesions, which virtually have no risk of malignant transformation, do contain somatic cancer driver mutations, which are in fact operator for cell growth and survival. In the past, researchers only knew driver mutations in cancer tissues. This study is the first time that driver mutations have been found in non-cancerous tissue and the implication is there that these mutations may, in fact, be responsible for invasiveness, dissemination, and recurrence of endometriosis, thinking the low probability of the DIE to turn into cancer.

“The study proved what I have long suspected,” said Dr. Tamer Seckin founder of The Endometriosis Foundation of America (EFA). “This is the first time that it has been demonstrated in a benign tissue that these cancer driver genes co-exist. In the past, we only identified mutations in cancer tissue. This study is the first time we see mutation sites in non-cancerous tissue.”

Seckin, a surgeon at Lenox Hill Hospital in New York City who provided 17 of the 24 tissue samples and one of the designer of the study, said that he had wanted to see a study like this since 2004 when he first presented in Cape Town South Africa his findings on ovarian cancer and what he thought were its association not only with endometriosis but also the relation with its invasive features.

“It is well known that there is a direct correlation between some types of ovarian cancer and endometriosis. However, this study enforces my theory that not all the endometriosis subtypes are the same and there are some specific cancer-related features in DIE which make them invasive, disseminating and recur, like cancers, but there is still more research necessary before we can draw an absolute conclusion,” said Seckin.

Seckin says the study will open doors to further studies to confirm similar or more definitive findings and that there may be markers that are unique to cancer-developing attributes to some endometriosis cases.

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  • Angela Aro

    I have struggled with endometriosis and adenomyosis since first starting my period at 13. I was diagnosed at 21 and what followed was a series of unsuccessful surgeries and treatments. My case was very aggressive and involved my urinary tract system and my intestines. After exhausting all of my local doctors I was lucky enough to find Dr. Seckin. We…

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  • Kristin Sands

    Like so many women who have tirelessly sought a correct diagnosis and proper, thorough medical treatment for endometriosis, I found myself 26 years into this unwanted journey without clear answers or help from four previous gynecological doctors and two emergency laparoscopic surgeries. I desperately wanted to avoid the ER again; a CT scan for appendicitis also revealed a likely endometrioma…

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    Dr. Seckin literally gave my wife her life back. I am eternally grateful to him for his generous, determined spirit to see that Melanie finally live free from the prison bonds of Endometriosis.

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    When I think of Dr. Seckin these are the words that come to mind. Gratitude, grateful, life-changing, a heart of gold. I feel compelled to give you a bit of background so you can understand the significance of this surgery for me. I am passionate about Endometriosis because it has affected me most of my life and I have a…

  • Jaclyn Harte

    Dr. Seckin and Dr. Goldstein radically changed my quality of life. They treat their patients with dignity & respect that I've personally never seen in the literally 25+ doctors I've seen for endometriosis. This summer, I had a surgery with Dr. Seckin & Goldstein. It was my first with them, but my 5th endo surgery. I couldn't believe the difference,…

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    Dr. Seckin is one of the best endometriosis surgeon. Every time I go to the office, he really listens to me and is always concerned about my issues. Dr Seckin's office staff are a delight and they always work with me. I feel I can leave everything to them and they will take care of it. Thank you to the…

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    Fast forward 5 years to find out incidentally I had a failing kidney. My left kidney was only functioning at 18%. During this time, I was preparing all my documents to send to Dr. Seckin to review. However, with this new information I put everything on hold and went to a urologist. After a few months, no one could figure…

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  • Erin Brehm

    I had a wonderful experience working with Dr. Seckin and his team before, during and after my surgery. I came to Dr. Seckin having already had laparoscopic surgery for endometriosis 5 years prior, with a different surgeon. My symptoms and pain had returned, making my life truly challenging and my menstrual cycle unbearable. Dr. Seckin was quick to validate my…

  • Anita Schillhorn

    I came to Dr. Seckin after years of dealing with endometriosis and doctors who didn't fully understand the disease. He quickly ascertained what needed to be done, laid out the options along with his recommendation and gave me the time to make the right decision for me. My surgery went without a hitch and I'm healing very well. He and…

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